Canonical Allele Identifier: CA2741420058

Gene: ACTC1 GJD2-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791324_34791340del , CM000677.2:g.34791324_34791340del	GRCh38
NC_000015.9:g.35083525_35083541del , CM000677.1:g.35083525_35083541del	GRCh37
NC_000015.8:g.32870817_32870833del	NCBI36
NG_007553.1:g.9387_9403del , LRG_388:g.9387_9403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1664_1680del (ACTC1)
ENST00000290378.6:c.809-45_809-29del (ACTC1) MANE Select	ENSP00000290378.4:n.809-45_809-29del
ENST00000647798.1:n.903-45_903-29del (ACTC1)
ENST00000650163.1:n.889-45_889-29del (ACTC1)
ENST00000290378.4:c.809-45_809-29del (ACTC1)	ENSP00000290378.4:n.809-45_809-29del
ENST00000557860.1:n.499-45_499-29del (ACTC1)
NM_005159.4:c.809-45_809-29del , LRG_388t1:c.809-45_809-29del (ACTC1)	NP_005150.1:n.809-45_809-29del
NR_120329.1:n.299+13893_299+13909del (GJD2-DT)
NM_005159.5:c.809-45_809-29del (ACTC1) MANE Select	NP_005150.1:n.809-45_809-29del